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Patients with disorders of sex development [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 Disorders of sex development (DSDs) are a genetically and clinically heterogeneous group of congenital conditions of the urogenital tract and reproductive system.
Renata Markosyan
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Disorders of Sex Development of Adrenal Origin [PDF]
Frontiers in Endocrinology, 2021 Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia.
Gabriela P. Finkielstain +4 more
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Fully Masculinized 46,XX Individuals with Congenital Adrenal Hyperplasia: Perspective Regarding Sex of Rearing and Surgery [PDF]
International Journal of Fertility and Sterility, 2022 Current guidelines for gender assignment for all 46,XX congenital adrenal hyperplasia (CAH) continue to be female. This decision is most challenging for individuals with a 46,XX karyotype born with (CAH) having severely masculinized genitalia (Prader 4 ...
Collin Jones +3 more
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Casuística de ambiguidade genital em hospital público universitário
Residência Pediátrica, 2022 OBJECTIVE: Ambiguous genitalia is a disorder of sex development. Incidence has been estimated at approximately one in 4,500-5,500 live births. The investigation and diagnosis of ambiguous genitalia is a clinical emergency given the importance of ...
Camila Clemente Luz +9 more
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Orphanet Journal of Rare Diseases, 2020 Background Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for “46,XY Disorders of Sex Development (DSD)”. Recently, there has been some controversy regarding the causative role of MAMLD1 variations in DSDs.
Lele Li +5 more
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Current status of disorders of sexual development in Indonesia
Advances in Human Biology, 2022 Disorders of Sex Development (DSD) rise challenges in various aspects of life due to the abnormalities in the patients' sex chromosomes, gonads or reproductive organs. Its causes are often due to genetic and environmental factors.
Ziske Maritska +8 more
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International Journal of Qualitative Studies on Health & Well-Being, 2023 Purpose Differences of sex development (DSD) are congenital conditions that involve variations in individuals’ sex chromosomes, genes, external and/or internal genitalia, hormones, and/or secondary sex characteristics.
Line Merete Mediå +3 more
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Journal of Biomedicine and Translational Research, 2021 Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family.
Iit Fitrianingrum +3 more
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Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Purpose Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients
Nae-yun Lee +6 more
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Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes.
Yena Lee +8 more
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